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Study i)Select the most valid and feasible accelerometer for measuring habitual physical activity in children with a mitochondrial disorderStudy ii)Measure the test-retest reliability of this instrument
Primary objective- To measure the effect of sapropterin on diurnal and day to day variations of blood phenylalanine concentrations.Secondary objective- To measure the effect of sapropterin on diurnal and day to day variations of blood tyrosine…
Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…
Based on the gaps in our knowledge (as stated above), we have formulated the following objectives:- To quantify the degree of hepatic fat accumulation and fibrosis in patients with HFI. - To gain more insight in the mechanism leading to NAFLD in…
1. Determine body composition of MD patients;2. Determine physical function of MD patients;3. Determine the association of body composition and physical function of MD patients.
The aim of this pilot study is to assess the effect of low intensity mastication training in patients with a mitochondrial disease on masticatory performance, efficacy, endurance, bite force and the feasibility of this training .
The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of Glycosylation.
The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…
The primary objectives of this study are: • To determine the longterm safety and tolerability of rhHNS administered via an intrathecal (IT) route once monthly for 8 years in patients with MPS IIIA, who have received and tolerated 6 months of…
Primary ObjectiveThe primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in patients with late-onset Pompe disease.Secondary ObjectivesThe secondary…
The primary objective of this study is to assess the relation between the short term metabolic changes after start of rhGH therapy and the long term change in height SDS after one and two years of treatment. Secondly, we want to assess the effects…
The main goal of the study is to develop and validate a device that provides an objective measure of degradation of motor performance in elderly people. The device will assist to diagnose neurodegenerative disorders in the elderly at an early stage…
The primary objectives of this study is:* To determine the safety and tolerability of rhHNS via ascending doses administered via a surgically implanted intrathecal drug device (IDDD) once monthly for 6 months, in patientswith MPS IIIA.The secondary…
The objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.
The primary objectives of this study are: * To characterize the effects of 150 mg and 450 mg of AT1001 administered 2 hours before administration of agalsidase on the safety and plasma pharmacokinetics of agalsidase in subjects with Fabry Disease*…
Primary Objectives * To assess the efficacy of rosuvastatin in paediatric patients with familial hypercholesterolaemia. * To establish long-term safety, tolerability and efficacy of rosuvastatin in paediatric patients with familial…
The objective of the study is to establish the effect of genestein in patients with MPS III on urinary and serum GAGs levels, hair morphology, GAG accumulation in skinbiopsy, cognitive functions and behavior (Piotrowska et al, 2008). MPS III is a…
To determine the effect of ageing on bone marrow fat fraction as assessed by QCSI measurements
2.1 Primary Objectives: 1) To test the feasibility of the six minute assisted leg and arm cycling test in patients aged 6-18 years with Duchenne muscular dystrophy (DMD), Beckers muscular dystrophy (BMD), Limb Girdle muscular dystrophy (LGMD),…
Primary :to assess the mass balance profile (i.e., excretion in urine and feces) of a single dose of AT1001 using 14C-labeled AT1001to characterize the absorption and elimination profiles of a single dose of AT1001 using 14C-labeled AT1001to…